Frontiers in Genetics | Human and Medical Genomics

Case Report

Published on 09 Nov 2022

Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism

in Human and Medical Genomics

Elizabeth Langley
Laura S. Farach
Kate Mowrey

Frontiers in Genetics

doi 10.3389/fgene.2022.1044660

1,852 views

Original Research

Published on 09 Nov 2022

Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations

in Human and Medical Genomics

Jianzheng Fang
Xiaoyi Wang
Xueping Sun
Yugui Cui
Feiyang Diao
Xiaoyu Yang

Frontiers in Genetics

doi 10.3389/fgene.2022.1035468

3,047 views
2 citations

Review

Published on 08 Nov 2022

Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature

in Human and Medical Genomics

Jiaxiong Wang
Weizhuo Wang
Liyan Shen
Aiyan Zheng
Qingxia Meng
Hong Li
Shenmin Yang

Frontiers in Genetics

doi 10.3389/fgene.2022.1034951

6,442 views
27 citations

Original Research

Published on 07 Nov 2022

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder

in Human and Medical Genomics

Leonardo Caporali
Claudio Fiorini
Flavia Palombo
Martina Romagnoli
Flavia Baccari
Corrado Zenesini
Paola Visconti
Annio Posar
Maria Cristina Scaduto
Danara Ormanbekova

Frontiers in Genetics

doi 10.3389/fgene.2022.953762

2,795 views
8 citations

Case Report

Published on 31 Oct 2022

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing

in Human and Medical Genomics

Jialing Yu
Na Chen
Min Chen
Min Shen
Yeqing Qian
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.1020525

1,913 views
1 citation

Editorial

Published on 28 Oct 2022

Editorial: Genetics and mechanism of ciliopathies

in Human and Medical Genomics

Steven Lim Cho Pei
Brian Hon Yin Chung

Frontiers in Genetics

doi 10.3389/fgene.2022.1067168

1,865 views

Original Research

Published on 26 Oct 2022

Genetic variants associated with circulating liver injury markers in Mexican Americans, a population at risk for non-alcoholic fatty liver disease

in Human and Medical Genomics

Caroline M. Sabotta
Suet-Ying Kwan
Lauren E. Petty
Jennifer E. Below
Aron Joon
Peng Wei
Susan P. Fisher-Hoch
Joseph B. McCormick
Laura Beretta

Frontiers in Genetics

doi 10.3389/fgene.2022.995488

4,286 views
8 citations

Original Research

Published on 26 Oct 2022

Association of toll-like receptors polymorphisms with COPD risk in Chinese population

in Human and Medical Genomics

Shulei Sun
Yuehao Shen
Jing Feng

Frontiers in Genetics

doi 10.3389/fgene.2022.955810

1,513 views
4 citations

Editorial

Published on 24 Oct 2022

Editorial: Can population health be personalized? Estonia and Finland as examples

in Human and Medical Genomics

Helena Kääriäinen
Andres Metspalu
Markus Perola

Frontiers in Genetics

doi 10.3389/fgene.2022.1051085

1,511 views

Editorial

Published on 24 Oct 2022

Editorial: DNA-based population screening for precision public health

in Human and Medical Genomics

Laura V. Milko
Muin J. Khoury

Frontiers in Genetics

doi 10.3389/fgene.2022.1061329

3,052 views
6 citations

Brief Research Report

Published on 24 Oct 2022

Genome-wide screening of sex-biased genetic variants potentially associated with COVID-19 hospitalization

in Human and Medical Genomics

Yu-Si Luo
Wei Li
Yi Cai
Jingxuan Zhang
Hongsheng Gui
Ke Zhang
Zhong-Shan Cheng

Frontiers in Genetics

doi 10.3389/fgene.2022.1014191

3,204 views
5 citations

Original Research

Published on 24 Oct 2022

Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma

in Human and Medical Genomics

Clare A. Primiero
Amy M. Baker
Courtney K. Wallingford
Ellie J. Maas
Tatiane Yanes
Lindsay Fowles
Monika Janda
Mary-Anne Young
Amy Nisselle
Bronwyn Terrill

Frontiers in Genetics

doi 10.3389/fgene.2022.919134

4,300 views
4 citations

Brief Research Report

Published on 21 Oct 2022

Transcription start site signal profiling improves transposable element RNA expression analysis at locus-level

in Human and Medical Genomics

Natalia Savytska
Peter Heutink
Vikas Bansal

Frontiers in Genetics

doi 10.3389/fgene.2022.1026847

4,786 views
8 citations

Review

Published on 21 Oct 2022

Donor-derived cell-free DNA as a diagnostic tool in transplantation

in Human and Medical Genomics

Michael Oellerich
Klemens Budde
Bilgin Osmanodja
Kirsten Bornemann-Kolatzki
Julia Beck
Ekkehard Schütz
Philip D. Walson

Frontiers in Genetics

doi 10.3389/fgene.2022.1031894

14,177 views
50 citations

Original Research

Published on 20 Oct 2022

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing

in Human and Medical Genomics

Alexander Varzari
Igor V. Deyneko
Gitte Hoffmann Bruun
Maja Dembic
Winfried Hofmann
Victor M. Cebotari
Sergei S. Ginda
Brage S. Andresen
Thomas Illig

Frontiers in Genetics

doi 10.3389/fgene.2022.969895

3,870 views
3 citations

Review

Published on 19 Oct 2022

Non-coding RNAs as potential biomarkers in osteosarcoma

in Human and Medical Genomics

Lijuan Fan
Zhenhao Zhong
Yubo Lin
Jitian Li

Frontiers in Genetics

doi 10.3389/fgene.2022.1028477

2,582 views
8 citations